Alkaptonuria: clinical manifestations and an updated approach to treatment of a rare disease

Alkaptonuria (AKU) is a rare autosomal recessive disorder with a global incidence of 1 in 250 000 to 1 million people worldwide. It results from a deficiency of the enzyme homogentisic acid (HGA) oxidase which when absent, leads to an accumulation of HGA. Without this enzymatic degradation, HGA depo...

Full description

Saved in:
Bibliographic Details
Published in:BMJ case reports 2021-12, Vol.14 (12), p.e244240
Main Authors: Roopnarinesingh, Ryan Curtis, Donlon, Noel Edward, Reynolds, John V
Format: Article
Language:English
Subjects:
Alkaptonuria - complications
Alkaptonuria - diagnosis
Arthritis
Cartilage
Cartilage, Articular
Case Report
Case reports
Esophageal cancer
Fractures
Homogentisic Acid
Humans
Joint surgery
Ochronosis - complications
Ochronosis - diagnosis
Orthopedics
Osteoarthritis
Osteoporosis
Pain
Patients
Pelvis
Rare Diseases
Urine
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Alkaptonuria (AKU) is a rare autosomal recessive disorder with a global incidence of 1 in 250 000 to 1 million people worldwide. It results from a deficiency of the enzyme homogentisic acid (HGA) oxidase which when absent, leads to an accumulation of HGA. Without this enzymatic degradation, HGA deposits in connective tissues resulting in pigmentation (ochronosis), plaque formation and accelerated cartilage destruction. With this, many patients who suffer from AKU develop ochronotic arthropathies, tendon ruptures, fractures, and chronic joint pain. Similarly, patients can develop cardiac valvular dysfunction and interstitial renal disease. Our two cases highlight the array of pathologies seen in AKU and, in light of newly published research, give us a platform from which we can discuss the developments in management of this rare disease.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2021-244240